tele-assessment of functional performance and quality of life in patients with duchenne muscular dystrophy: validity and reliability study

Conditions: Duchenne Muscular Dystrophy

Summary: thanks to tele-assessment methods, it may be possible to evaluate dmd patients without traveling to clinical centers. in recent years, the applicability of remote assessment methods in dmd patients, as in many populations, is being investigated. however, studies have generally focused on a single evaluation parameter such as physical function, a special evaluation method or a special evaluation tool. the aim of this study is to investigate whether remote assessment of functional performance and quality of life in dmd patients is valid and reliable. if a valid and reliable tele-evaluation method that includes functional performance and quality of life parameters is found to be valid and reliable, the travel burden on patients and caregivers can be eased, patients\&#39; stress and anxiety related to travel can be reduced, caregivers can save time and energy and provide patients with the best possible treatment.

dmd is a progressive muscle disease that causes difficulties in mobility and impairment of vital functions as a result of x chromosome-linked dystrophin deficiency. symptoms appear between the ages of 3 and 5, and in untreated cases, loss of ambulation occurs around the age of 8-12. long sitting periods due to wheelchair use increase the risk of contracture, osteopenia, fracture and scoliosis, and accompanying cardiorespiratory complications cause mortality in the early 20s in most cases. determining functional performance in dmd is a guide for determining appropriate treatment options and objectively evaluating the effectiveness of treatment. however, the evaluation methods applied are performed in clinical environments that require frequent travel and require both time and physical effort. the aim of this study is to investigate whether remote assessment of functional performance and quality of life in dmd patients is valid and reliable. for this purpose, 20 volunteers diagnosed with dmd at istanbul university-cerrahpaşa child neurology polyclinic and who meet the inclusion criteria will be evaluated in two ways, online and face-to-face, in terms of functional performance and quality of life parameters. in addition, scoring will be performed by two different physiotherapists during the evaluation and the reliability of the tele-evaluation among the evaluators will be examined. functional performance timed performance tests, brooke upper extremity functional classification and vignos lower extremity functional classification; quality of life will be evaluated with pedsql-3.0 neuromuscular module and pedsql multidimensional fatigue scale. thanks to valid and reliable tele-assessment methods for dmd patients, travel burden can be alleviated for both patients and caregivers, and disease-related stress and anxiety can be reduced. in this way, caregivers can save time and energy while providing the best care to patients.

Eligibility criteria:
inclusion criteria: * being diagnosed with duchenne muscular dystrophy * being between the ages of 5-18 * having ambulation skills * having internet access and technical requirements * having the ability to follow movement instructions * volunteering to participate in the study exclusion criteria: * having cognitive or behavioral problems that may interfere with evaluation * having communication problems that may prevent evaluation * having a level of contracture that may prevent evaluation * having a systemic disease that may prevent evaluation

Keywords: duchenne muscular dystrophy, tele-assessment, timed performance test, quality of life, fatigue